Highlighted Publications - February 2025

Department of Human Genetics faculty are involved in widely diverse areas of research, from Genome Structure and Function research to Evolutionary and Population Genetics:

• Evolutionary and Population Genetics
• Genome Structure and Function
• Molecular Basis of Mendelian Disorders
• Complex Traits and Diseases
• Developmental Genetics

Michigan Experts is a searchable database of research expertise across disciplines from several schools/colleges or institutes at the University of Michigan. Please explore The Department of Human Genetics' research profile and collaboration network on the Michigan Experts website.

PubMed® comprises more than 37 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full text content from PubMed Central and publisher web sites. 

Reenacting a mouse genetic evolutionary arms race in yeast reveals that SLXL1/SLX compete with SLY1/2 for binding to Spindlins

Arlt MF, Kruger AN, Swanepoel CM, Mueller JL. Reenacting a mouse genetic evolutionary arms race in yeast reveals that SLXL1/SLX compete with SLY1/2 for binding to Spindlins. Proc Natl Acad Sci U S A. 2025 Feb 18; 122(7):e2421446122.doi: 10.1073/pnas.2421446122. Epub 2025 Feb 10. PMID: 39928872.

https://pubmed.ncbi.nlm.nih.gov/39928872/

Collaborators:

• Martin F Arlt
• Alyssa Kruger
• Callie Swanepoel
• Jacob L Mueller

Ash1l loss-of-function results in structural birth defects and altered cortical development

Toolan KP, McGrath BT, Brinkmeier ML, Camper SA, Bielas SL. Ash1l loss-of-function results in structural birth defects and altered cortical development. Brain. 2025 Jan 7; 148(1):55-68. doi: 10.1093/brain/awae218. PMID:38943682. PMCID: PMC11706301.

https://pubmed.ncbi.nlm.nih.gov/38943682/

Collaborators:

• Kevin Toolan
• Brian McGrath
• Michelle Brinkmeier
• Sally Camper
• Stephanie Bielas

Concerns about genetic risk testing for opioid use disorder

Hatoum AS, Davis CN, Kember RL, Johnstone M, Oslin DW, Zinkstok JR, Burmeister M; Ethics, Position, and Public Policy Committee of the International Society of Psychiatric Genetics, Board of Directors of the International Society of Psychiatric Genetics; Agrawal A, Kranzler HR, Edenberg HJ, Gelernter J, Docherty AR, Lencz T. Concerns about genetic risk testing for opioid use disorder. Lancet Psychiatry. 2025 Feb; 12(2):94-95. doi 10.1016/S2215-0366(24)00310-9. Epub 2024 Oct 13. PMID: 39413801.

https://pubmed.ncbi.nlm.nih.gov/39413801/

Collaborators:

• Margit Burmeister

Coordinated neuron-specific splicing events restrict nucleosome engagement of the LSD1 histone demethylase complex

Porter RS, An S, Gavilan MC, Nagai M, Murata-Nakamura Y, Zhou B, Bonefas KM, Dionne O, Manuel JM, St-Germain J, Gascon S, Kim J, Browning L, Laurent B, Cho US, Iwase S. Coordinated neuron-specific splicing events restrict nucleosome engagement of the LSD1 histone demethylase complex. Cell Rep. 2025 Jan 28; 44(1):115213. doi:10.1016/j.celrep.2024. 115213. Epub 2025 Jan 15. PMID: 39817906.

https://pubmed.ncbi.nlm.nih.gov/39817906/

Collaborators:

• Robert S Porter
• (Maria) Cecilia Gavilan
• Yumie Murata Nakamura
• Bo Zhou
• K Bonefas
• Shigeki Iwase

Cerebellar lipid dysregulation in SCA3: A comparative study in patients and mice

Putka AF, Mohanty V, Cologna SM, McLoughlin HS. Cerebellar lipiddysregulation inSCA3: A comparative study in patients and mice. Neurobiol Dis. 2025 Feb 1; 206:106827. doi: 10.1016/j.nbd.2025.106827. Epub ahead of print. PMID: 39900303.  

https://pubmed.ncbi.nlm.nih.gov/39900303/

Collaborators:

• Hayley S McLoughlin

Mutant PP2A Induces IGFBP2 Secretion to Promote Development of High-Grade Uterine Cancer

Haanen TJ 3rd, Boock S, Callahan CG, Peris I, Zawacki KP, Raines B, Nino CA, Tran B, Harold A, Hodges Onishi G, Hinderman M, Dowdican A, Huang W, Taylor DJ, Taylor SE, Jackson MW, DiFeo A, O'Connor CM, Narla G. Mutant PP2A Induces IGFBP2 Secretion to Promote Development of High-Grade Uterine Cancer. Cancer Res. 2025 Feb1; 85(3):442-461. doi: 10.1158/0008-5472. CAN-24-1263. PMID: 39531506; PMCID:PMC11788061.

https://pubmed.ncbi.nlm.nih.gov/39531506/

Collaborators:

• Goutham Narla

Loss of protein C vs protein S results in discrepant thrombotic phenotypes

Ku CJ, Yu X, Zhao QY, Grzegorski SJ, Daniel JG, Ferguson AC, Shavit JA. Loss of protein C vs protein S results in discrepant thrombotic phenotypes. Blood Adv. 2025 Feb 11; 9(3):545-557. doi: 10.1182/bloodadvances. 2024013237. PMID:39657127.

https://pubmed.ncbi.nlm.nih.gov/39657127/

Collaborators:

• Jordan Shavit

Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing

VanDeynze K, Mumm C, Maltby CJ, Switzenberg JA, Todd PK, Boyle AP. Enhanced detection and genotyping of disease-associated tandem repeats using HMMSTR and targeted long-read sequencing. Nucleic Acids Res. 2025 Jan 11; 53(2):gkae1202. doi:10.1093/nar/gkae1202. PMID: 39676678; PMCID: PMC11754662.

https://pubmed.ncbi.nlm.nih.gov/39676678/

Collaborators:

• Camille Mumm
• Peter K Todd
• Alan P Boyle

TIME-CoExpress: Temporal Trajectory Modeling of Dynamic Gene Co-expression Patterns Using Single-Cell Transcriptomics Data

Yang S, Bussing A, Marra G, Brinkmeier ML, Camper SA,Davis SW, Ho YY.bioRxiv [Preprint]. 2025 Jan 26:2025.01.23.634392. doi:10.1101/2025.01.23.634392.PMID: 39896591.

https://pubmed.ncbi.nlm.nih.gov/39896591/

Collaborators:

• Michelle Brinkmeier
• Sally Camper 
   

Please explore the Department of Human Genetics' publications on the PubMed Central website.